Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice

Jamiyansuren, Jambaldorj; Makino, Satoshi; Munkhbat, Batmunkh; Tamiya, Gen

doi:10.1016/j.bbrc.2012.07.081

Cited by 21 publications

(20 citation statements)

References 17 publications

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“…But the trace of its molecular behavior is sure to provide a way to investigate possible mechanisms of neuronal loss and the development of dystonic movements. Recently, we found the differences in the expression pattern between mTaf1 and mN-Taf1 [14]. These findings suggest that N-TAF1 may have an important role, such as protectoral function in differentiated neurons, rather than in cell division and proliferation during neurogenesis and further support an important role for N-TAF1 in the regulation of many neuron-specific genes.…”

Section: Resultsmentioning

confidence: 62%

“…The expression of N-TAF1 is localized in the brain and is significantly decreased in the brain of patients with XDP/DYT3, suggesting that it may have an essential role in neuronal survival in the striatum. Although we identified the mouse homologue of N-TAF1 (mN-Taf1) and demonstrated the expression pattern of N-Taf1 mRNA in mouse embryo head and brain [14], little is known about distribution of N-TAF1 protein. We report here the characterization of a monoclonal antibody, 3A-11F, which specifically recognizes N-TAF1.…”

Section: Introductionmentioning

confidence: 99%

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Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1)

et al. 2012

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TATA-box binding protein-associated factor 1 (TAF1), the largest subunit of the transcription factor IID complex, plays an important role in the RNA polymerase IImediated gene transcription pathway regulating the transcription of a large number of genes related to cell division. The neuron-specific isoform of the TAF1 gene (N-TAF1) may have an essential role in neurons through transcriptional regulation of many neuron-specific genes. The present study reports the preparation and properties of a monoclonal antibody directed against N-TAF1. The monoclonal antibody, 3A-11F, specifically recognized N-TAF1 protein with no reactivity to TAF1 protein, as evidenced by immunocytochemistry and immunoprecipitation using cultured cells expressing recombinant N-TAF1 or TAF1 protein. Immunohistochemistry using 3A-11F showed that N-TAF1-imunoreactivity was detected in the nuclear region of neurons in the rat brain. The 3A-11F monoclonal antibody promises to be a useful tool for determining the expression pattern and biological function of N-TAF1 in the brain.

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Section: Resultsmentioning

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1)

et al. 2012

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“…al (2013) corroborated previous reports which suggested that a reduction in TAF1 expression is associated with large-scale expression differences across hundreds of genes. Studies in rat and mice brain also corroborate the importance and relevance of TAF1 expression patterns specific to neuronal tissues [64,65]. In corroboration with biochemical and functional studies, a recent populationscale study reported TAF1 as being ranked 53rd among the top 1,003 constrained human genes [66].…”

Section: A Taf1 Variant Implicated In Disease Phenotypementioning

confidence: 57%

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Lyon

2015

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We describe the discovery of a new genetic syndrome, RykDax syndrome, driven by a whole genome sequencing (WGS) study of one family from Utah with two affected male brothers, presenting with severe intellectual disability (ID), a characteristic intergluteal crease, and very distinctive facial features including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin. This Caucasian family was recruited from Utah, USA. Illumina-based WGS was performed on 10 members of this family, with additional Complete Genomics-based WGS performed on the nuclear portion of the family (mother, father and the two affected males). Using WGS datasets from 10 members of this family, we can increase the reliability of the biological inferences with an integrative bioinformatic pipeline. In combination with insights from clinical evaluations and medical diagnostic analyses, these DNA sequencing data were used in the study of three plausible genetic disease models that might uncover genetic contribution to the syndrome. We found a 2 to 5-fold difference in the number of variants detected as being relevant for various disease models when using different sets of sequencing data and analysis pipelines. We derived greater accuracy when more pipelines were used in conjunction with data encompassing a larger portion of the family, with the number of putative de-novo mutations being reduced by 80%, due to false negative calls in the parents. The boys carry a maternally inherited missense variant in a X-chromosomal gene TAF1, which we consider as disease relevant. TAF1 is the largest subunit of the general transcription factor IID (TFIID) multi-protein complex, and our results implicate mutations in TAF1 as playing a critical role in the development of this new intellectual disability syndrome.

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“…Dystonia as a neurodevelopmental disorder is thus a well‐reviewed concept; previous evidence stemmed for instance from the regulated expression of THAP1 and TOR1A during development in rodent brains. Moreover, the expression in mouse brains of the putative gene for DYT3/X‐linked dystonia‐parkinsonism, TAF1 , also follows a pattern of highest expression during embryonic stages . A role in neurodevelopment of the TAF1 gene is also forwarded by the recent finding that mutations within its coding sequence cause a syndrome that includes global developmental delay and intellectual disability .…”

Section: Dystonia As a Neurodevelopmental Disordermentioning

confidence: 99%

“…Moreover, the expression in mouse brains of the putative gene for DYT3/X-linked dystoniaparkinsonism, 36 TAF1, also follows a pattern of highest expression during embryonic stages. 37 A role in neurodevelopment of the TAF1 gene is also forwarded by the recent finding that mutations within its coding sequence cause a syndrome that includes global developmental delay and intellectual disability. 38 It is conceivable that altered expression patterns of mutated proteins compromise the normal maturation of synaptic contacts in the developing brain (specifically, in one or more network nodes, as described in the cerebellum of TOR1A mutant mice 39 ), eventually resulting in faulty circuitry and manifesting phenotypically as dystonia.…”

Section: Dystonia As a Neurodevelopmental Disordermentioning

confidence: 99%

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High‐Throughput Sequencing

2016

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Dystonia is a genetically heterogenous disease and a prototype disorder where next-generation sequencing has facilitated the identification of new pathogenic genes. This includes the first two genes linked to recessively inherited isolated dystonia, that is, HPCA (hippocalcin) and COL6A3 (collagen VI alpha 3). These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis. First, deficiency in HPCA function is thought to alter calcium homeostasis, a mechanism that has previously been forwarded for CACNA1A and ANO3. The novel myoclonus-dystonia genes KCTD17 and CACNA1B also implicate abnormal calcium signaling in dystonia. Second, the phenotype in COL6A3-loss-of-function zebrafish models argues for a neurodevelopmental defect, which has previously been suggested as a possible biological mechanism for THAP1, TOR1A, and TAF1 based on expression data. The newly reported myoclonus-dystonia gene, RELN, plays also a role in the formation of brain structures. Defects in neurodevelopment likewise seem to be a recurrent scheme underpinning mainly complex dystonias, for example those attributable to biallelic mutations in GCH1, TH, SPR, or to heterozygous TUBB4A mutations. To date, it remains unclear whether dystonia is a common phenotypic outcome of diverse underlying disease mechanisms, or whether the different genetic causes converge in a single pathway. Importantly, the relevance of pathways highlighted by novel dystonia genes identified by high-throughput sequencing depends on the confirmation of mutation pathogenicity in subsequent genetic and functional studies. However, independent, careful validation of genetic findings lags behind publications of newly identified genes. We conclude with a discussion on the characteristics of true-positive reports.

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Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice

Cited by 21 publications

References 17 publications

Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1)

Generation of a Monoclonal Antibody Specifically Reacting with Neuron-specific TATA-Box Binding Protein-Associated Factor 1 (N-TAF1)

A variant inTAF1is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High‐Throughput Sequencing

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